Details of Disease

General Information of Disease (ID: DISP7DR6)

• Disease Name: Mucopolysaccharidosis type IIIA
• Synonyms: mucopolysaccharidosis III; Mucopoly-saccharidosis type 3; mucopolysaccharidosis type IIIB; Sanfilippo syndrome A; MPS IIIA - Sanfilippo syndrome A; mucopolysaccharidosis, MPS-III-B; Sanfilippo syndrome B; mucopolysaccharidosis type IIIA; MPS IIIB - Sanfilippo syndrome B; N-acetyl-alpha-D-glucosaminidase deficiency; MPS IIID - Sanfilippo syndrome D; NAGLU deficiency; MPS IIIC - Sanfilippo syndrome C; Mucopolysaccharidosis Type III; MPS3; N-sulphoglucosamine sulphohydrolase deficiency; heparan sulphate sulfatase deficiency; heparan sulfate sulfatase deficiency; mucopolysaccharidosis type III; mucopolysaccharidosis, MPS-III; Sanfilippo's syndrome; Sanfilippo disease; Sanfilippo syndrome; MPSIII
• Disease Class: 5C56: Lysosomal disease
• Definition: Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterized by severe and rapid intellectual deterioration.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISE1F82: Bone disease
  DISB083T: Mucopolysaccharidosis
  DISP7DR6: Mucopolysaccharidosis type IIIA
• ICD Code: ICD-11: ICD-11: 5C56.3Y
• Disease Identifiers:
  MONDO ID: MONDO_0018937
  MESH ID: D009084
  UMLS CUI: C0026706
  MedGen ID: 6452
  Orphanet ID: 581
  SNOMED CT ID: 88393000

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
OTL-201	DM4MPQE	Phase 1/2	Cell therapy	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NAGLU	TTDM6HZ	Disputed	Genetic Variation	[2]
SGSH	TTPJ2SH	Disputed	Biomarker	[3]
ARSB	TTESQTG	Strong	Genetic Variation	[4]
IDS	TTNY2AP	Strong	Biomarker	[5]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARSG	OTT7TDW7	Limited	Biomarker	[6]
GNS	OTNFKYGB	Limited	Biomarker	[7]
MAP1LC3A	OTPMGIU4	Strong	Biomarker	[8]
TNMD	OTHLVA9G	Strong	Biomarker	[8]
HGSNAT	OTXPCELL	Definitive	Autosomal recessive	[9]

References

• [1] Clinical pipeline report, company report or official report of Orchard Therapeutics
• [2] An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene.Stem Cell Res. 2019 May;37:101427. doi: 10.1016/j.scr.2019.101427. Epub 2019 Mar 23.
• [3] Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking -synuclein.Neuropathol Appl Neurobiol. 2019 Dec;45(7):715-731. doi: 10.1111/nan.12548. Epub 2019 Apr 25.
• [4] Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease.Eur J Hum Genet. 2010 Feb;18(2):200-5. doi: 10.1038/ejhg.2009.144. Epub 2009 Aug 19.
• [5] Incidence of the mucopolysaccharidoses in Western Australia.Am J Med Genet A. 2003 Dec 15;123A(3):310-3. doi: 10.1002/ajmg.a.20314.
• [6] Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).Hum Mol Genet. 2015 Apr 1;24(7):1856-68. doi: 10.1093/hmg/ddu603. Epub 2014 Dec 1.
• [7] Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID.Hum Mol Genet. 2017 Apr 15;26(8):1535-1551. doi: 10.1093/hmg/ddx058.
• [8] Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency.Autophagy. 2018;14(8):1419-1434. doi: 10.1080/15548627.2018.1474313. Epub 2018 Jul 23.
• [9] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.